MPSI Manifestations and Treatment Outcome: Skeletal Focus

被引:9
作者
De Ponti, Giada [1 ]
Donsante, Samantha [2 ]
Frigeni, Marta [3 ]
Pievani, Alice [4 ]
Corsi, Alessandro [2 ]
Bernardo, Maria Ester [1 ,5 ,6 ]
Riminucci, Mara [2 ]
Serafini, Marta [3 ]
机构
[1] IRCCS San Raffaele Sci Inst, San Raffaele Telethon Inst Gene Therapy, I-20132 Milan, Italy
[2] Sapienza Univ, Dept Mol Med, I-00161 Rome, Italy
[3] Zucker Sch Med Hofstra Northwell, Dept Pediat, Div Med Genet & Metab, New York, NY 11021 USA
[4] Univ Milano Bicocca, Ctr Ric M Tettamanti, Dept Pediat, I-20900 Monza, Italy
[5] Ist Sci San Raffaele, Pediat Immunohematol & Bone Marrow Transplantat U, I-20132 Milan, Italy
[6] Univ Vita Salute San Raffaele, Pediat Dept, I-20132 Milan, Italy
关键词
lysosomal storage disease; mucopolysaccharidoses; mucopolysaccharidosis type I; lysosomal alpha-L-iduronidase; glycosaminoglycans; endochondral bone formation; MUCOPOLYSACCHARIDOSIS TYPE-I; ENZYME-REPLACEMENT THERAPY; STEM-CELL TRANSPLANTATION; ALPHA-L-IDURONIDASE; BONE-MARROW-TRANSPLANTATION; HORMONE-RELATED PEPTIDE; HEPARAN-SULFATE PROTEOGLYCANS; LYSOSOMAL STORAGE DISORDERS; HURLER-SYNDROME; GENE-THERAPY;
D O I
10.3390/ijms231911168
中图分类号
Q5 [生物化学]; Q7 [分子生物学];
学科分类号
071010 ; 081704 ;
摘要
Mucopolysaccharidosis type I (MPSI) (OMIM #252800) is an autosomal recessive disorder caused by pathogenic variants in the IDUA gene encoding for the lysosomal alpha-L-iduronidase enzyme. The deficiency of this enzyme causes systemic accumulation of glycosaminoglycans (GAGs). Although disease manifestations are typically not apparent at birth, they can present early in life, are progressive, and include a wide spectrum of phenotypic findings. Among these, the storage of GAGs within the lysosomes disrupts cell function and metabolism in the cartilage, thus impairing normal bone development and ossification. Skeletal manifestations of MPSI are often refractory to treatment and severely affect patients' quality of life. This review discusses the pathological and molecular processes leading to impaired endochondral ossification in MPSI patients and the limitations of current therapeutic approaches. Understanding the underlying mechanisms responsible for the skeletal phenotype in MPSI patients is crucial, as it could lead to the development of new therapeutic strategies targeting the skeletal abnormalities of MPSI in the early stages of the disease.
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页数:34
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